A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548695



Internal ID16336104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194602714..194652709hg38UCSC Ensembl
Innerchr1:194571844..194621839hg19UCSC Ensembl
Innerchr1:192838467..192888462hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3849996
hg1949996
hg1849996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733896
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548695
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer